Murat Bastepe
- Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
2003/10/15 by Murat Bastepe, Leopold F. Fröhlich, Geoffrey N. Hendy +12 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Syndromes and Imprinting #Epigenetics and DNA Methylation #Genomics and Rare Diseases
- Epigenetic Defects of<i>GNAS</i>in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy
2007/04/03 by Guiomar Pérez de Nanclares, Guiomar Pérez de Nanclares, Eduardo Fernández-Rebollo +22 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic Syndromes and Imprinting #Genomics and Rare Diseases #Parathyroid Disorders and Treatments
- Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption
2013/08/17 by Serap Turan, Eduardo Fernández‐Rebollo, Eduardo Fernandez-Rebollo +13 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetic Syndromes and Imprinting #Genomics and Rare Diseases #Metabolism, Diabetes, and Cancer